"Illumina Laboratory Services, Illumina"[submitter] AND "SNORD118"[gen - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973324	NM_183065.4(TMEM107):c.*733G>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GUncertain significance
Select item 929270	NM_183065.4(TMEM107):c.*718G>A	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts +1 more	GConflicting classifications of pathogenicity
Select item 2637964	NM_183065.4(TMEM107):c.*686A>C	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts	GUncertain significance
Select item 929280	NM_183065.4(TMEM107):c.*686A>G	TMEM107, SNORD118	Single nucleotide variant (non-coding transcript variant +1 more)	Leukoencephalopathy with calcifications and cysts +1 more	GPathogenic/Likely pathogenic
Select item 2130952	NM_183065.4(TMEM107):c.*674G>T	SNORD118, TMEM107	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance

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